Heerfordt’s syndrome: an uncommon manifestation of sarcoidosis

Heerfordt’s syndrome – the combination of facial palsy, parotid swelling, anterior uveitis and fever, is a rare manifestation of sarcoidosis. Here, we present case history of a patient with bilateral lower motor neuron facial nerve palsy, who was found to have bilateral parotid gland swelling and bilateral hilar lymphadenopathy. Computed tomography guided fine needle aspiration cytology from hilar lymph node findings were consistent with sarcoidosis. Subsequently, based on clinical features and cytological findings, the case was diagnosed as incomplete Heerfordt’s syndrome. Birdem Med J 2021; 11(1): 67-69

PATH-17. NOVEL DUAL HISTONE 3 K27M AND G34R POINT MUTATIONS IN A MIDLINE GLIOMA

BACKGROUND Histone H3 alterations due to mutations on H3F3A and HIST1H3B genes, have in recent years been associated with distinct entities and tumor locations within the context of infiltrative gliomas. H3K27M is associated with a midline location and is included in the WHO 2016 as the diffuse midline glioma H3K27M-mutant, a specific diagnostic entity. H3G34R, thought to be a mutually exclusive alteration, is less common but has been associated with a cerebral hemispheric location. We report the first case to our knowledge with both of these alterations in the same tumor. METHODS Clinical and pathologic records of the patient were reviewed and presented. RESULTS A 39-year-old man presented with acute right face, arm, and leg numbness and mild weakness; examination was notable for right lower motor neuron facial nerve palsy and numbness, along with numbness and subtle slowing of rapid alternating movements in the left arm and leg. A non-enhancing left thalamic mass was identified and stereotactically biopsied. Infiltrative glial neoplasm with moderately-increased cellularity was seen, with ovoid cells, enlarged nuclei, apoptotic bodies, and mitotic figures. No necrosis or microvascular proliferation seen. Immunostain was positive for H3K27M. O6-methylguanine-methyltransferase (MGMT) promoter was not methylated. Next-generation sequencing showed dual in cis H3 point mutations in K27M (HIST1H3B c.83A >T) and G34R (HIST1H3B c.103G >C). Additional alterations were noted in NF1, PIK3CA, ATRX, FGFR3, and NSD1. Isocitrate dehydrogenase (IDH1/2) mutations were not identified. CONCLUSION This case of a young man with a midline glioma is novel for carrying both H3K27M and H3G34R alterations and indicates these alterations are not mutually exclusive. The interaction seen here suggests H3K27M dominance for a midline phenotype.

A rise in facial nerve palsies during the coronavirus disease 2019 pandemic

ObjectiveAn increase in spontaneous lower motor neuron facial nerve (VIIth cranial nerve) palsies was seen during the severe acute respiratory syndrome coronavirus 2 outbreak in our emergency clinic. This led us to perform a single-centre cohort review.MethodsA retrospective review was conducted of VIIth cranial nerve palsies from January to June 2020 and the findings were compared to those cases reviewed in the previous year. The severe acute respiratory syndrome coronavirus 2 incidence of the cohort was compared with that of the Liverpool population.ResultsOur VIIth cranial nerve palsy incidence in the 2020 period was 3.5 per cent (30 out of 852), 2.7 higher than last year's rate of 1.3 per cent (14 out of 1081), which was a statistically significant difference (p < 0.01). Two of the 17 patients in our cohort tested positive for severe acute respiratory syndrome coronavirus 2 (11.8 per cent), contrasting with Liverpool's severe acute respiratory syndrome coronavirus 2 incidence (0.5 per cent).ConclusionSevere acute respiratory syndrome coronavirus 2 may be responsible for an increased number of facial nerve palsies; it is important for clinicians to be aware that this may being an initial presentation of the disease.

Potential association between recurrent facial nerve palsy and migraines

ObjectiveThis study aimed to investigate the possible association between recurrent facial nerve palsy and migraines.MethodThis study was a prospective case series with a two-year follow-up at an academic, tertiary referral centre and included patients with at least four episodes of recurrent lower motor neuron facial nerve palsy. All patients underwent standardised diagnostic tests.ResultsFour patients fulfilled the inclusion criteria. The patients were all female with an average age at presentation of 40.75 years (range, 33–60 years) and an average age at the initial episode of 14 years (range, 12–16 years). The number of episodes varied between six and nine. All patients had at least one episode of facial nerve palsy on the contralateral side. Two patients were diagnosed and treated for migraine with aura remaining asymptomatic following prophylactic medication for migraines.ConclusionThe results raise the possibility of an association between recurrent facial nerve palsy and migraines. Prospective studies in patients with even fewer episodes of facial nerve palsy could shed more light on this association.

Restoration of Microtia by Prosthetic Method: A Case Report

Background: Microtia is one of the forms of ear loss and deformity. It is a congenital anomaly of the external ear. Social and psychological rehabilitation of such patients requires a prosthesis that is esthetic as well as has enough strength and texture to represent the natural ear. Because of financial constraints, some patients cannot afford the surgical procedure of grafting. Case report: This is a case of 17 year old female with congenital missing right ear along with facial deformity due to Lower Motor Neuron facial nerve palsy. Treatment plan: Prosthetic replacement of the missing ear was planned to improve the esthetic and social well being of the patient in an economical way. Conclusion: a definitive management of the missing ear can be done using dental implants and bar attachment if the financial condition and social acceptance with interim prosthesis is satisfactory.

Bilateral Post Traumatic Facial Nerve Palsy Presenting as Dysarthria: A Case Report

Bilateral traumatic facial nerve palsy (FNP) is rare and can present with distressing features. We report a 23-year-old male final year medical student with a 10-day history of speech difficulty following a passenger motorcycle road traffic accident. Physical examination showed a fully conscious young man whose only neurological deficit was bilateral lower motor neuron facial nerve palsy (House and Brackmann grade IV) and difficulty pronouncing plosives. A high-resolution temporal bone CT showed a right longitudinal temporal bone fracture. There was no temporal bone fracture on the left side. Brain MRI was normal. He had complete recovery of facial nerve function on conservative management 6 months after the injury.

Isolated Lower Motor Neuron Facial Nerve Palsy in a Patient of Varicella: A Case Report

Varicella or chickenpox is usually regarded as a self-limiting disease, but occasionally it may leadto irreversible neurological complications. Isolated lower motor neuron facial nerve palsy is a rarecomplication of varicella, with very few cases reported from the Indian subcontinent. We report onesuch case, where the patient developed facial palsy after healing of cutaneous lesions and recoveredcompletely with oral corticosteroids.

Bell’s palsy due to congenital cholesteatoma of petrous apex: a case report

Congenital cholesteatoma (CC) is a rare disease, it accounts for 2-5% of all cholesteatomas [2] most common site being middle ear. Case report: We reported a case of 23-year-old female presented with progressive left sided facial asymmetry for 4 years and progressive hearing loss in the left ear for 2 years. She had normal left tympanic membrane and complete left lower motor neuron facial nerve palsy. High resolution computed tomography with contrast temporal bone showed extensive bony destruction, petrous apex and soft tissue lesion. Patient then proceed with transmastoid translabyrinthine approach. Diagnosis of cholesteatoma confirmed by histopathological examination (HPE). Congenital cholesteatoma of petrous apex is a rare case. It is a challenge to diagnose congenital cholesteatoma pre-operatively without specific radiological sign. This is because the disease is generally difficult to differentiate with mucocele and cholesterol granuloma on CT scan. Therefore, intraoperative diagnosis more accurate rather than the preoperative diagnosis. Bangladesh Med J. 2018 Jan; 47 (1): 41-43

Ear, nose, and throat surgery

Chapter 35 provides an overview of ear, nose, and throat (ENT) surgery. The most common presentations encountered in ENT surgery are summarized including acute tonsillitis and quinsy, otitis externa, head and neck cancer, and airway emergencies. A more detailed description of the clinical presentation of common diseases encountered in ENT clinics is provided covering otitis externa, lower motor neuron facial nerve palsy, nasal fractures, acute otitis media, neck lumps, and vertigo. The roles of investigations used to support diagnosis in ENT including audiography, ultrasound, and magnetic resonance imaging are described. The presentation and management of acute presentations in ENT seen in emergency departments including epistaxis, acute peritonsillar abscess, airway emergencies, periorbital cellulitis, including airway assessment are described. An overview of commonly performed ENT operations is provided including tonsillectomy, grommet insertion, thyroidectomy, neck dissection, and tracheostomy. An approach to clinical skills in ENT (including common OSCE stations in exams) is described, including history taking, examination of neck lumps, thyroid exam, and ear examination. Clinical tests of hearing are presented and their interpretation described.